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  1. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Finnish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535151
    ... 1153C>T p.Arg385Cys 60% Finnish NM_001024943.1 NP_001020114.1 Keskinen et al [2008] Aspartylglucosaminuria (OMIM ... p.Gly154AlafsTer29 90% (~1.4%) Finnish NM_001042432.1 NP_001035897.1 International Batten Disease Consortium [1995] CLN5 ...
  2. MELAS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1233
    ... 9957T>C MT-CO3 p.Phe251Leu NC_012920 ​.1 NP_536849 ​.1 Manfredi et al [1995] <10% m.13513G>A MT-ND5 p.Asp393Asn NC_012920 ​.1 NP_536853 ​.1 Santorelli et al [1997] Rare m. ...
  3. LTBP4-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK343782
    ... encoding 1557 amino acids (isoform c; NP_001036010.1 ). NP_001036009.1 and NP_003564.2 are also ... c.580G>A p.Val194Ile 1 NM_001042544 ​.1 NP_001036009 ​.1 c.2359A>G p.Thr787Ala 1 ...
  4. Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK8828
    ... p.Gly178_Gln181[2_4] 1 NM_001039958 ​.1 NP_001035047 ​.1 Pathogenic c.271A>G p.Lys91Glu ... Sequences c.564C>A p.Phe188Leu NM_001040167 ​.1 NP_001035257 ​.1 Variants listed in the table have ...
  5. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... Sequences c.64C>T p.Arg22Ter NM_172250 ​.1 NP_758454 ​.1 c.161G>A p.Trp54Ter c. ... 0 c.19C>T p.Gln7Ter NM_000255 ​.1 NP_000246 ​.1 mut 0 c.52C>T p.Gln18Ter mut ...
  6. DRPLA - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1491
    ... 6-35 repeats) See footnote 1 NM_001007026 ​.1 NP_001007027 ​.1 Pathogenic c.1462CAG(49_55) 2 See footnote ...
  7. Timothy Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1403
    ... c.1204G>A p.Gly402Ser NM_000719 ​.6 1 NP_000710 ​.5 c.1216G>A p.Gly406Arg c. ... Ala1473Gly c.1216G>A p.Gly406Arg NM_001167625 ​.1 2 NP_001161097 ​.1 Note on variant classification: Variants listed ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... A p.Arg1264His 95% 1/165 NM_001283009.1 NP_001269938.1 Shi et al [2017] c.3028C> ...
  9. CATSPER-Related Male Infertility - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22925
    ... CATSPER2 and STRC CATSPER2 isoform 1: NM_172095 ​.1 NP_742093 ​.1 STRC : NM_153700 ​.2 NP_714544 ​.1 Variants listed in the table have been provided ... STRC protein is 1775 amino acids in length ( NP_714544.1 ). It is expressed in the stereocilia hair-bundle ...
  10. Spinocerebellar Ataxia Type 38 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK543515
    ... Protein Change Comment [Reference] Benign NM_001242828 ​.1 1 NP_001229757 ​.1 c.304C>T p.Gln102Ter Variant transcript 1 Pathogenic NM_021814 ​.5 2 NP_068586 ​.1 c.214C>G p.Leu72Val Only known pathogenic ...
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